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A study of cardiovascular risk in heterozygotes for homocystinuria
Insights
Mild homocyst(e)inemia, common in cystathionine synthase deficiency heterozygotes, was studied for cardiovascular risk. This research found no significant increase in heart attacks or strokes, suggesting it
Area of Science:
- Biochemistry and Genetics
- Cardiovascular Disease Epidemiology
Background:
- Homocystinuria patients exhibit early atherosclerotic lesions and thromboembolic issues.
- Mild homocyst(e)inemia, seen in heterozygotes for cystathionine synthase deficiency, is suspected to increase ischemic heart disease risk.
Purpose of the Study:
- To assess the cardiovascular risk associated with mild homocyst(e)inemia.
- Evaluate the incidence of heart attacks and strokes in parents and grandparents of homocystinuric children.
Main Methods:
- Retrospective study analyzing familial history of cardiovascular events.
- Comparison of heart attack and stroke frequencies in relatives of homocystinuric children versus controls.
Main Results:
- No statistically significant increase in heart attacks or strokes was consistently observed.
- Cardiovascular risk increase in heterozygotes is likely less than threefold, with <5% experiencing events by age 50.
Conclusions:
- Mild homocyst(e)inemia does not appear to be a significant contributor to overall cardiovascular disease incidence.
- The study virtually excludes a fivefold increase in cardiovascular risk for homocystinuria heterozygotes.
Abstract:
Early atherosclerotic-like lesions and thromboemobolic problems are prominent in homocystinuric patients. Recent evidence suggested that mild homocyst(e)inemia, such as is present in heterozygotes for homocystinuria due to cystathionine synthase deficiency, may cause a marked excess in early ischemic heart disease. To evaluate the risk due to mild homocyst(e)inemia, the frequencies of heart attacks and strokes in parents and grandparents of homocystinuric children were assessed in the present study. No statistically significant increases in the incidence of heart attacks or strokes were consistently detected. The data available are sufficient to virtually exclude an increase in the cardiovascular risk for homocystinuria heterozygotes of as much as fivefold compared to controls, and to make very improbable a relative risk of as much as threefold. Less than 5% of homocystinuria heterozygotes are likely to have a fatal or nonfatal heart attack by age 50. These results fail to suggest that mild homecyst(e)inemia is an important contributory factor in the overall incidence of cardiovascular disease.